T66A (p.Thr66Ala) variant of C9ORF72 (Q96LT7)
T66A (p.Thr66Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T66A (p.Thr66Ala) variant details
- p.Thr66Ala
- ESP rs373709108
- ExAC rs373709108
- TOPMed rs373709108
- gnomAD rs373709108
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.56
- AlphaMissense 0.99
- MetaLR 0.15
- MetaSVM -0.93
- CADD 26.00
- PolyPhen-2 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available